{
  "id": 15172,
  "label": "multiple congenital anomalies-hypotonia-seizures syndrome 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014165",
  "properties": {
    "xrefs": [
      "DOID:0080140",
      "GARD:0017584",
      "MEDGEN:815686",
      "MESH:C566367",
      "OMIM:603530",
      "OMIM:615398",
      "Orphanet:369837",
      "UMLS:C3809356"
    ],
    "synonyms": [
      "LFSS",
      "MCAHS type 3",
      "PIGT multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
      "PIGT-CDG",
      "congenital disorder of glycosylation due to PIGT deficiency",
      "multiple congenital anomalies-hypotonia-seizures syndrome 3",
      "multiple congenital anomalies-hypotonia-seizures syndrome type 3",
      "multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGT",
      "M syndrome",
      "MCAHS3",
      "glycosylphosphatidylinositol biosynthesis defect 7",
      "intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 6893,
      "label": "skeletal system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4222
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0002461",
          "MEDGEN:538042",
          "SCTID:88230002",
          "UMLS:C0263661"
        ],
        "synonyms": [
          "disease of skeletal system",
          "disease or disorder of skeletal system",
          "disorder of skeletal system",
          "skeletal system disease",
          "skeletal system disease or disorder",
          "disease of bone and/or joint",
          "osteoarthropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A disease involving the skeletal system."
      },
      "child_count": 48,
      "reference_id": "MONDO:0005172"
    },
    {
      "id": 16198,
      "label": "developmental anomaly of metabolic origin",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6795,
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019900",
          "MEDGEN:1826093",
          "Orphanet:139009",
          "UMLS:C5680623"
        ]
      },
      "child_count": 114,
      "reference_id": "MONDO:0015327"
    },
    {
      "id": 17977,
      "label": "inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4594,
        16168,
        21353
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021342",
          "MEDGEN:1842274",
          "Orphanet:309515",
          "UMLS:C5679954"
        ],
        "synonyms": [
          "disorder of glycosphingolipid and GPI-anchored proteins glycosylation",
          "disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation"
        ]
      },
      "child_count": 24,
      "reference_id": "MONDO:0017748"
    },
    {
      "id": 23985,
      "label": "multiple congenital anomalies-hypotonia-seizures syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        16087
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080503",
          "GARD:0026096",
          "MEDGEN:1683744",
          "OMIMPS:614080",
          "UMLS:C5191419"
        ]
      },
      "child_count": 8,
      "reference_id": "MONDO:0100247"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 6893,
      "label": "skeletal system disorder"
    },
    {
      "id": 16198,
      "label": "developmental anomaly of metabolic origin"
    },
    {
      "id": 17977,
      "label": "inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation"
    },
    {
      "id": 23985,
      "label": "multiple congenital anomalies-hypotonia-seizures syndrome"
    }
  ]
}